Search Results - "Santi, Maria E"

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    DNAI1 mutations explain only 2% of primary ciliary dykinesia by Failly, Mike, Saitta, Alexandra, Muñoz, Analia, Falconnet, Emilie, Rossier, Colette, Santamaria, Francesca, de Santi, Maria Margherita, Lazor, Romain, DeLozier-Blanchet, Celia D, Bartoloni, Lucia, Blouin, Jean-Louis

    Published in Respiration (01-01-2008)
    “…Primary ciliary dyskinesia (PCD) is a rare recessive hereditary disorder characterized by dysmotility to immotility of ciliated and flagellated structures. Its…”
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    Journal Article
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    Overlapping morphologic and immunophenotypic profiles in small B-cell lymphoma. A report of two cases by KOSTOPOULOS, Ioannis, COCCO, Mario, GINANNESCHI, Chiara, D'AMURI, Alessandro, LAZZI, Stefano, FABBRI, Alberto, FORCONI, Francesco, MARGHERITA DE SANTI, Maria, LEONCINI, Lorenzo

    “…We present two cases of small B-cell lymphomas of particular diagnostic interest because the histological patterns were at variance with their immunophenotype…”
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    Journal Article
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    Kabuki syndrome with trichrome vitiligo, ectodermal defect and hypogammaglobulinemia A and G by Zannolli, Raffaella, Buoni, Sabrina, Macucci, Francesca, Scarinci, Renato, Viviano, Massimo, Orsi, Alessandra, de Aloe, Giovanni, Fimiani, Michele, Volterrani, Luca, de Santi, Maria M., Miracco, Clelia, Zappella, Michele, Hayek, Joseph

    Published in Brain & development (Tokyo. 1979) (01-07-2007)
    “…We report a unique combination of symptoms in a case of Kabuki syndrome (KS), a multiple malformation/mental retardation syndrome that has a prevalence of…”
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    Journal Article
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